Evidence map›Paper›PMID 37628577›Full record

ReviewGenes2023

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the

Irene Ambrosetti, Laura Bernardini, Marzia Pollazzon, Maria Grazia Giuffrida, Valentina Guida, Francesca Peluso, Maria Chiara Baroni, Valeria Polizzi, Manuela Napoli, Simonetta Rosato and 7 more

Open access · goldAbstract readReview
In one paragraph

Review in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.6field-weighted citation impact, top 15% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors at 3 institutions in 1 country.

Irene AmbrosettiMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Laura BernardiniDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0002-3554-2817
Marzia PollazzonClinical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0000-0002-9865-0751
Maria Grazia GiuffridaDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Valentina GuidaDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Francesca PelusoClinical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0000-0002-0976-1258
Maria Chiara BaroniMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Valeria PolizziDepartment of Audiology, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Manuela NapoliNeuroradiology Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0000-0002-0434-4172
Simonetta RosatoClinical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Gabriele TrimarchiClinical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Chiara GelminiClinical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Stefano Giuseppe CaraffiClinical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0000-0002-5033-7854
Anita WischmeijerClinical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Daniele FrattiniChild Neurology and Psychiatry Unit, Azienda AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Antonio NovelliTranslational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.ORCID 0000-0002-9037-4297
Livia GaravelliClinical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Azienda Sanitaria Unità Locale di Reggio Emilia · ITCasa Sollievo della Sofferenza · ITBambino Gesù Children's Hospital · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Split Hand-Foot Malformation (SHFM) is a congenital limb defect characterized by a median cleft of the hands and/or feet due to the absence/hypoplasia of the central rays. It may occur as part of a syndromic condition or as an isolated malformation. The most common of the six genetic loci identified for this condition is correlated to SHFM1 and maps in the 7q21q22 region. SHFM1 is characterized by autosomal dominant transmission, incomplete penetrance and variable expressivity. Associated features often include hearing loss, intellectual disability/developmental delay and craniofacial abnormalities. Disruption of the

Indexed as

DeafnessLimb Deformities, CongenitalGenes, HomeoboxHomeodomain ProteinsHumansLower ExtremityTranscription FactorsDLX5 protein, humanHomeodomain ProteinsTranscription FactorsDLX5DLX6DYNC1I1ectrodactylyimprintingregulatory elementsSHFMTADs

Identifiers

PMID37628577
PMCPMC10454356
OpenAlexW4385309506

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.